A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744427



Internal ID9978711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:45111021..45111918hg38UCSC Ensembl
Outerchr11:45132572..45133469hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38898
hg19898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862215, essv6965559, essv6866962, essv6976909, essv6770642, essv6819530, essv6672926
SamplesSSM008, SSM027, SSM088, SSM029, SSM089, SSM031, SSM078
Known GenesPRDM11
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2744427
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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